 Stephanie Hernandez was absolutely shattered the day she found out from the geneticist that her son Jay was diagnosed with Sanfilippo Sndrome (type C). "It was like I died on that day, and I've been mourning ever since", she says. The Sanfilippo Life is a harsh terrain to navigate, a constant balancing act between remaining hopeful, happy and positive-minded on the one hand - counterbalanced with the ever-present, constantly buzzing-in-your-air fear of watching your own child lose every single skill they have - and then lose their life, way too early. Stephanie especially loves her beautiful boy's voice, and the way he soothes her when she's stressed out or anxious. And she can't imagine losing that. One person who is providing hope to Stephanie is a 15-year old boy named Connor Dobbyn - also with Sanfilippo Syndrome type C - because of Connor's ever-loquacious car rides with his dad, which have inspired Stephanie and her husband to believe that perhaps they too will be fortunate enough to hear their son Jay's voice for many, many years to come. Click below for video segment (2 minutes long) where Stephanie talks about being inspired by fellow Sanfilippo type C warrior Connor Dobbyn's Sanfilippo journey from the other side of the country (thanks to the power and impact of social media): When I found out that your son Connor also has Sanfilippo type C, it gave me hope that my son Jay will still be able to talk and laugh and smile for a long time to come "       To watch the full (12-minute) interview with Stephanie, click below: She was so welcoming, and so helpful. And what I appreciated is that she didn't sugar coat it. She told me, "This is what's going to happen, and here's what you need to be aware of" "
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 When Tennessee police officer Shaun O’Neal’s youngest son Kiernan (age 5 at the time) accidentally fish-hooked a bungee cord through his own bottom lip while taking a drive with him in his pickup truck, Shaun had no idea it was ultimately going to lead to a devastating Sanfilippo Syndrome diagnosis for his son. By pure coincidence, one of the nurse practitioners at the doctor’s office (where they took Kiernan to get his mouth checked out the next day) happened to be knowledgeable of MPS disorders in general (of which Sanfilippo is one), and she suggested to Shaun that they take Kiernan for genetic testing because, as she explained to him, Kiernan's physical features and oral fixation seemed spot-on for an MPS disorder. The O'Neals took the nurse practitioner's advice and got Kiernan genetic tested. And when the geneticist ultimately came back with a diagnosis of Sanfilippo Syndrome a few weeks later, no Googling of 'Sanfilippo Syndrome' was needed. That’s because the son of one of Shaun’s high school classmates - a little boy by the name of Lucas Hembree (one town away) - had just passed away (40 days prior) from Sanfilippo Syndrome. The O’Neal family had closely followed Lucas’s story. “We knew instantly that this diagnosis was really bad”, said Shaun.    Shippenville PA mom Jamie (right) with son Trenton (18 yrs old, Sanfilippo type A) In her 23 years as a special needs teacher, Jamie Hooks has worked with many children of all different backgrounds, with cognitive and physical disabilities of all sorts. But, not once over those many school years and classrooms had Jamie ever had a student who displayed signs of cognitive regression and childhood dementia-like symptoms. So when her own son Trent (now 18) was diagnosed with Sanfilippo Syndrome (type A), back in 2019 (at age 13), the Shippenville (PA) mother of three almost couldn't believe what she was hearing. Getting a diagnosis like Sanfilippo Syndrome rattles an entire family to the core and changes them forever. But it also causes us to seek human connections that help us to feel less alone in our journeys. And that's exactly what Jamie and her family did. Shortly after receiving Trent’s diagnosis, the Hooks family traveled to a National MPS conference and, for the first time, had the chance to meet (in person) many other families that find themselves along the very same harrowing journey. While at the conference, Jamie made it a point to step outside of her comfort zone and introduce herself and get to know each and every single Sanfilippo family in attendance that weekend. After all, she says, “These people are all my family now”. We are all on this journey together"  The Hooks family, Christmas 2023 |
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Mike Dobbyn, Archives
June 2024
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